Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.I492N
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PRKAG2

NM_016203.4:p.I492N

Associated Papers

Coronary Vasospasm, an Unexpected Side Effect of Adenosine: A Case Report and Review of the Literature.

Jimidar N et al.

Case Reports in Cardiology, 2025

Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.

Neubauer J et al.

International Journal of Legal Medicine, 2021

33895855 (PubMed )
Supplement: 414_2021_2580_MOESM5_ESM.xlsx › Tabelle1

Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.

Muin DA et al.

Scientific Reports, 2021

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."